Leukodystrophy-associated <i>POLR3A</i> mutations down-regulate the RNA polymerase III transcript and important regulatory RNA <i>BC200</i>.

Consistent with a selective effect on type 2 transcripts, none of the genes coding for type 1 (5S rRNA) or type 3 transcripts (U6 RNAs, Y RNAs, RPPH1, RMRP, and RN7SK) displayed significant differences between control and mutant samples, although some showed a small trend toward decreased expression in mutants ( Fig.

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However, although the majority of expressed precursor tRNAs showed a trend toward a decrease ( Fig. 3 b and Table S2 ), at the individual gene level only four tRNA genes demonstrated a statistically significant decrease (FDR <0.05), due to the variability in the genotypes of the three mutants.

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